MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
3,968 diseases matched (Disease) Reset

Lambert-Eaton myasthenic syndrome

ORPHA:43393Disease
Not applicable

Lamellar ichthyosis

ORPHA:313Disease
Autosomal dominant, Autosomal recessive

Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23

ORPHA:565837Disease
Autosomal recessive

Landau-Kleffner syndrome

ORPHA:98818Disease
Autosomal dominant, Unknown

Langerhans cell histiocytosis

ORPHA:389Disease
Unknown

Langerhans cell sarcoma

ORPHA:86897Disease

Large/giant congenital melanocytic nevus

ORPHA:626Disease
Multigenic/multifactorial

Laron syndrome

ORPHA:633Disease
Autosomal recessive

Laron syndrome with immunodeficiency

ORPHA:220465Disease
Autosomal dominant, Autosomal recessive

Laryngeal neuroendocrine tumor

ORPHA:100083Disease

Laryngo-onycho-cutaneous syndrome

ORPHA:2407Disease
Autosomal recessive

Lassa fever

ORPHA:99824Disease

Late-onset combined immunodeficiency due to ICOS deficiency

ORPHA:695183Disease
Autosomal recessive

Late-onset combined immunodeficiency due to ICOSL deficiency

ORPHA:695191Disease

Late-onset distal myopathy, Markesbery-Griggs type

ORPHA:98912Disease
Autosomal dominant

Late-onset focal dermal elastosis

ORPHA:228227Disease
Not applicable

Late-onset isolated ACTH deficiency

ORPHA:199299Disease
Not applicable

Late-onset junctional epidermolysis bullosa

ORPHA:79406Disease
Autosomal recessive

Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome

ORPHA:231556Disease
Unknown

Late-onset retinal degeneration

ORPHA:67042Disease
Autosomal dominant

Lathosterolosis

ORPHA:46059Disease
Autosomal recessive

Lattice corneal dystrophy type I

ORPHA:98964Disease
Autosomal dominant

Lead poisoning

ORPHA:330015Disease
Not applicable

Leber congenital amaurosis

ORPHA:65Disease
Autosomal dominant, Autosomal recessive